Zellweger Syndrome-Disease (group of diseases) called Peroxisome bio-genesis disorders. It is a inherited conditions that damage the white matter of the brain and also how the body metabolizes particular substances in the blood and organ tissues.
Is there any Treatment- There is no cure for Zellweger syndrome,nor is there a standard metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during Fetal development treatments to correct these abnormalities after birth are limited.
Body parts affected- Head and face enlarged head, high forehead, large anterior fontanelle (soft spot) malformed ear lobes,flat-looking face. Brain and nervous system, abnormal brain develop leads to seizures,hearing and vision delay, or absent diminished, or absent reflexes. Liver enlarged liver with impaired function jaundice.
Zellweger syndrome is estimated to occur in 1 of every 50,000 to 100,000 births, It affects
both Male and Female and is present at birth.
Early death could occur with zellweger syndrome.
There is at least 12 genes required for proper assembly of the peroxisome.
Defects in any of these 12 genes result in disorders of the Zellweger Spectrum.
The Peroxisome performs a number of important jobs within the cell that are needed to breakdown certain types of fats,to produce hormones,an to help the nervous system work properly.
How zellweger syndrome is diagnosed: The distinctive shape of the head and face of a child born with one of the diseases of the Zellweger spectrum, in conjunction with other clinical signs and symptoms, will be used to suggest a diagnosis. Therefore, a blood test for elevated levels of these VLCFA will be used to comfirm the diagnosis.
(The shapes of infants heads with Zellweger syndrome)
(The insides of the body,with Zellweger Syndrome, there parts are much larger.)
More symptoms:
Seizures
Jaundice
Elevated iron
Elevated liver
Elevated copper
Inability to move
Poor sucking ability
Vision disturbance
Lack of muscle tone
Difficulty swallowing
Intellectual disability
Prenatal growth failure
Gastrointestinal bleeding
Recovery and Rehabilitation - Physical, occupational, Respiratory, and speech therapists can provide supportive strategies an devices to maintain posture,independent breathing,speech,eating an other daily activities according to the infant or child's development stage for as long as practically possible.
Clinical Trials- As of 2004, there is one clinical trial sponsored by the FDA office of orphan products Development for the treatment of Zellweger Syndrome (which is under review by the National Institute of Health.) It involves determining the effectiveness of giving oral bile acids and other acids, as therapy for affected individuals.
Prognosis- Persons with Zellweger Syndrome rarely live more than one year after diagnosis,with death due mostly to severe feeding difficulties, liver complications,Respiratory distress,and cardiac defects.
The karyotype= 7,46xx
There is support groups for Zellweger syndrome. Where people discuss there disorder and there are, support groups you can join on the internet.
Zellweger Syndrome
- Zellweger syndrome is estimated to occur in 1 of every 50,000 to 100,000 births, It affects
both Male and Female and is present at birth.How zellweger syndrome is diagnosed: The distinctive shape of the head and face of a child born with one of the diseases of the Zellweger spectrum, in conjunction with other clinical signs and symptoms, will be used to suggest a diagnosis. Therefore, a blood test for elevated levels of these VLCFA will be used to comfirm the diagnosis.
(The shapes of infants heads with Zellweger syndrome)
(The insides of the body,with Zellweger Syndrome, there parts are much larger.)
More symptoms:
Seizures
Jaundice
Elevated iron
Elevated liver
Elevated copper
Inability to move
Poor sucking ability
Vision disturbance
Lack of muscle tone
Difficulty swallowing
Intellectual disability
Prenatal growth failure
Gastrointestinal bleeding
Recovery and Rehabilitation - Physical, occupational, Respiratory, and speech therapists can provide supportive strategies an devices to maintain posture,independent breathing,speech,eating an other daily activities according to the infant or child's development stage for as long as practically possible.
Clinical Trials- As of 2004, there is one clinical trial sponsored by the FDA office of orphan products Development for the treatment of Zellweger Syndrome (which is under review by the National Institute of Health.) It involves determining the effectiveness of giving oral bile acids and other acids, as therapy for affected individuals.
Prognosis- Persons with Zellweger Syndrome rarely live more than one year after diagnosis,with death due mostly to severe feeding difficulties, liver complications,Respiratory distress,and cardiac defects.
The karyotype= 7,46xx
There is support groups for Zellweger syndrome. Where people discuss there disorder and there are, support groups you can join on the internet.
Questions:
:Work cited:
http://rarediseases.about.com/od/rarediseasesz/a/0305.htmhttp://www.ninds.nih.gov/disorders/zellweger/zellweger.htm
http://www.ulf.org/types/Zellweger.html
http://www.disabled-world.com/disability/types/zellweger-syndrome.php
http://www.answers.com/topic/zellweger-s-syndrome